Congenital cholesteatoma and malformations of the facial nerve: Rare manifestations of the BOR syndrome

Abstract

We describe a 14-month-old girl with unilateral congenital cholesteatoma and anomalies of the facial nerve in addition to the more common branchial arch, otic, and renal malformations comprising the branchio-oto-renal (BOR) syndrome. Her mother also has the BOR syndrome and unilateral duplication of the facial nerve. This is the first study of a BOR patient with congenital cholesteatoma and the second family in which cholesteatoma and anomalies of the facial nerve are described in patients with the BO/BOR syndrome. We review the congenital cholesteatoma literature and discuss hypotheses for the pathogenesis of this entity in light of this new report.

From a branchial fistula to a branchiootorenal syndrome: a case report and review of the literature

“…The most common reported characteristics of BOR on CT were hypoplastic apical turn of the cochlea, facial nerve deviated to the medial side of the cochlea, funnel-shaped IAC, patulous eustachian tube, reduced middle ear cavity, a variety of ossicular anomalies, hypoplastic lateral semicircular canal, and enlarged vestibular aqueduct [14]. Facial and cochlear nerve abnormalities have also been reported in the BOR syndrome [15,16]. In addition to bilateral apical turn cochlea hypoplasia, bilateral horizontal semicircular canals, right malleus, and incus were hypoplastic, and the IAC was not funnel shaped in the proband.…”

Cochlear implantation in branchio-oto-renal syndrome — A surgical challenge

“…In the right ear, two distinct symmetric mastoid segments of the facial nerve exited via separate stylomastoid foramina, while in the left ear bifi d mastoid segments of the facial nerve were seen with the smaller, medial segment exiting into the lateral wall of the jugular foramen and the labyrinthine portion of the nerve showed a loop-like anterior course, separate upto the internal auditory canal. Another case report by Graham GE et al [20] describes a 14 month old girl with BOR syndrome having congenital cholesteatoma co-existent with facial nerve anomaly (bifi d course).…”

The genetics of cholesteatoma. A systematic review using narrative synthesis

“…Cholesteatoma is a rare disorder (1:10 000 per year), and therefore, epidemiological studies are difficult to conduct, and causative risk factors are still poorly understood. The citations about cholesteatoma in the definitive catalogue of genes and genetic diseases, Online Mendelian Inheritance in Man, document minimal evidence for the Mendelian inheritance of this disorder . However, reports of familial clustering of disease and of association with genetic syndromes (reviewed here) suggest underlying, but as yet unidentified genetic risk factors.…”

“…The citations about cholesteatoma in the definitive catalogue of genes and genetic diseases, Online Mendelian Inheritance in Man, 12 document minimal evidence for the Mendelian inheritance of this disorder. 13 However, reports of familial clustering of disease and of association with genetic syndromes (reviewed here) suggest underlying, but as yet unidentified genetic risk factors. Identifying these could enhance our understanding of disease biology, and open up pathways for diagnostic, screening and therapeutic interventions.…”